Currarino syndrome

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Currarino syndrome2016-11-25T13:19:22+00:00

Currarino syndrome 

GENETICS 

An autosomal dominant multi-anomaly syndrome (OMIM:176450) characterised by partial sacral agenesis* with intact first sacral vertebra (‘sickle-shaped sacrum’), a presacral mass*, and anorectal malformation*.

*The defects that comprise the so called Currarino triad.

Other findings Renal–e.g., urinary incontinence, gynaecologic–e.g., dysmenorrhoea, dyspareunia, Hirschsprung disease, pelvic abscess, malignant degeneration of pre-sacral teratoma, Escherichia coli ascending meningitis and spinal cord tethering, recurrence of benign teratoma, sacral anaesthesia and headaches precipitated by coughing or straining.

Molecular pathology Defects in MNX1, which encodes a nuclear transcription factor involved in pancreas development and function, cause Currarino syndrome.

Synonyms Currarino triad, anorectal malformation–sacrorectal malformations–presacral mass, sacral agenesis—hereditary—with presacral mass—anterior meningocele—and/or teratoma—and anorectal malformation, sacral agenesis syndrome

References http://www.uniprot.org/uniprot/P50219

http://www.omim.org/entry/176450

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